Canonical Allele Identifier: CA500991531

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48263166G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185805G>A , CM000679.2:g.50185805G>A	GRCh38
NC_000017.10:g.48263166G>A , CM000679.1:g.48263166G>A	GRCh37
NC_000017.9:g.45618165G>A	NCBI36
NG_007400.1:g.20835C>T , LRG_1:g.20835C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4221C>T MANE Select	ENSP00000225964.6:p.Thr1407=
ENST00000225964.9:c.4221C>T	ENSP00000225964.5:p.Thr1407=
NM_000088.3:c.4221C>T , LRG_1t1:c.4221C>T	NP_000079.2:p.Thr1407=
XM_005257058.3:c.3951C>T	XP_005257115.2:p.Thr1317=
XM_005257059.3:c.3303C>T	XP_005257116.2:p.Thr1101=
XM_011524341.1:c.4023C>T	XP_011522643.1:p.Thr1341=
XM_005257058.4:c.3951C>T	XP_005257115.2:p.Thr1317=
XM_005257059.4:c.3303C>T	XP_005257116.2:p.Thr1101=
NM_000088.4:c.4221C>T MANE Select	NP_000079.2:p.Thr1407=